{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T06:19:57Z","timestamp":1788848397806,"version":"build-2803163510"},"reference-count":48,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T00:00:00Z","timestamp":1672790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019346","name":"Instituto Nacional de Cancerolog\u00eda","doi-asserted-by":"publisher","award":["C19990300218"],"award-info":[{"award-number":["C19990300218"]}],"id":[{"id":"10.13039\/100019346","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerolog\u00eda, Colombia (INC-C), the largest reference cancer center in the country. Ten of 19 patients (52.63%) were identified as carriers of a pathogenic\/likely pathogenic (P\/LP) germline variant in a known susceptibility gene. The majority of the P\/LP variants were in the <jats:italic>SDHB<\/jats:italic> gene (9\/10): one corresponded to a nonsense variant c.268C&amp;gt;T (p.Arg90*) and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1, explaining 42% (8\/19) of all the affected cases. Only one additional case was found to be a carrier of a missense mutation in the <jats:italic>VHL<\/jats:italic> gene: c.355T&amp;gt;C (p.Phe119Leu). Our study highlights the major role of <jats:italic>SDHB<\/jats:italic> in Colombian patients with a clinical diagnosis of PGL\/PCC tumors and supports the recommendation of including the analysis of large deletions\/duplications of the <jats:italic>SDHB<\/jats:italic> gene as part of the genetic counselling to improve the detection rate of hereditary cases and their clinical care.<\/jats:p>","DOI":"10.3389\/fgene.2022.999329","type":"journal-article","created":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T06:51:37Z","timestamp":1672815097000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas"],"prefix":"10.3389","volume":"13","author":[{"given":"Mar\u00eda Carolina","family":"Manotas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Luc\u00eda","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Milena","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Abisambra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonzalo","family":"Guevara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vilma","family":"Medina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Tapiero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Huertas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Ria\u00f1o-Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"Mej\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e9lica Mar\u00eda","family":"Gonzalez-Clavijo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireya","family":"Tapiero-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s Arturo","family":"Cu\u00e9llar-Cu\u00e9llar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Felipe","family":"Fierro-Maya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Carolina","family":"Sanabria-Salas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmedgenet-2020-107652","article-title":"International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma","author":"Aim","year":"2021","journal-title":"J. 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